ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for not specified

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) rs587783138 0.00003
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) rs587783746 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro) rs782019867 0.00002
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) rs782420258 0.00002
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter) rs267608569 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) rs61754440 0.00002
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476 0.00002
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg) rs782042904 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) rs61748387
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) rs2148661261
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) rs1557135313
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) rs63749028
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) rs587783107
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) rs61753974
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro) rs1060499623
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) rs61755762
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) rs267608456
NM_001110792.2(MECP2):c.413+2dup rs1057518521
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.62+5439T>C rs2148763055
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu) rs2065951467
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.731G>A (p.Gly244Asp) rs61748422
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp) rs138211345
NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg) rs2148662691
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg) rs1557138023
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) rs2148661783

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